Detection of endocrine disorders in young children with multi-transfused thalassemia major

Abstract

Background Beta thalassemia major (TM) is the most common inherited genetic disorder worldwide. Patients are at risk of iron overload, which leads to various forms of tissue damage, including endocrinopathies. The aim of this study was to evaluate the prevalence and risk factors of endocrine disorders in young patients with multi-transfused TM receiving iron chelation therapy. Methods The inclusion criteria included all known cases of TM according to hemoglobin electrophoresis data, aged 12 years or younger, during the study period. The patient’s age, gender, parent’s consanguinity, clinical examination, and types of iron chelating agents used were recorded. Serum ferritin level, complete blood count (CBC), blood glucose homeostasis, thyroid, and parathyroid functions were determined. Results One hundred twenty patients met the inclusion criteria; 70% of them had malnutrition. The presence of endocrine disorders was observed in 28/120 (23.33%) patients. The most common endocrine disorders were thyroid disorders, either subclinical or clinical hypothyroidism in 11/120 (9.17%) patients, followed by abnormalities in glucose homeostasis 9/120 (7.5%). The prevalence of impaired glucose tolerance, impaired fasting glucose, and diabetes mellitus in the present study was 5 (4.17%), 4 (3.33%), and 0 (00%), respectively, while the least frequent endocrine disorder seen in our patients was hypoparathyroidism in 8/120 (6.66%). We noted that high serum ferritin levels and poor patient compliance to therapy were significantly associated with increased endocrine disorders (OR 0.98, 95% CI 0.96–0.99, P = 0.003 and OR 0.38, 95% CI 0.16:0.93, P = 0.03, respectively). Combined chelating iron agents significantly decreased the prevalence of endocrine disorders when compared with monotherapy (OR 0.40, 95% CI 0.16:0.97, P = 0.04). Conclusion Endocrine disorders could occur in TM patients early before or equal to 12 years of life in about one-fourth of the patients. A high serum ferritin level and poor patient compliance to therapy were significantly associated with increased endocrine disorders. Combined iron-chelating agents were associated with a decreased prevalence of endocrine disorders when compared with monotherapy.

Link between Genotype and Multi-Organ Iron and Complications in Children with Transfusion-Dependent Thalassemia

“…The prevalence of the other endocrine complications in our pediatric population was hypogonadism, hypothyroidism and GH deficit—5.9%, and hypoparathyroidism—4.4%. This prevalence was consistent with some studies [ 66 , 67 ], while other studies reported a significantly higher incidence of endocrinopathies [ 14 , 16 ]. These discrepancies could be attributed to differences in age distribution and therapeutic management, and to genetic, geographical, cultural, and economic factors.…”

New Entity—Thalassemic Endocrine Disease: Major Beta-Thalassemia and Endocrine Involvement

“…The keywords of research are “beta-thalassemia” in combination with one of the following: “endocrine”, “fertility”, respective “pregnancy”; but, also, “hypogonadism”, “thyroid”, “TSH”, “parathyroid”, “parathormone”, “stature”, “puberty”, “pituitary”, “diabetes”, “glycaemia”, “fracture”, “TBS”, “DXA”, “ACTH”, “osteoporosis”, “osteopenia”, or “adrenal”. Core endocrine descriptive analysis as displayed in Table 1 was restricted to clinical studies with different levels of statistical evidence, in both paediatric and adult population with major BTH, including more than 40 participants/study aiming two types of data: the ratio of EDs among the general panel of complications; and correlations between EDs and other specific parameters of evaluation in BTH (we included 1 longitudinal study, 15 cross-sectional studies, 1 retrospective analysis, 1 cohort study, 2 meta-analysis, and 2 surveys) [ 20 , 21 , 22 , 23 , 24 , 25 , 26 , 27 , 28 , 29 , 30 , 31 , 32 , 33 , 34 , 35 , 36 , 37 , 38 , 39 , 40 , 41 ] ( Table 1 ).…”

“…General disease control is the most useful indicator of TED at any age. Endocrine glands are particularly sensitive to IO which is the key to understanding the TED spectrum [ 24 , 28 , 29 ]. TED is described at very young ages, for instance, one in four patients aged below 12 y already has at least one ED [ 24 ].…”

“…Endocrine glands are particularly sensitive to IO which is the key to understanding the TED spectrum [ 24 , 28 , 29 ]. TED is described at very young ages, for instance, one in four patients aged below 12 y already has at least one ED [ 24 ]. BTH-associated endocrine panel includes anomalies of GH/IGF1 (Growth Hormone/Insulin-like Growth Factor) axes with potential growth retardation, GH deficiency being identified in both children and adults, hypogonadism, hypothyroidism, various glucose profile anomalies, hypoparathyroidism, adrenal insufficiency, as well as reduced bone mineral quantity and the deterioration of microarchitecture [ 24 , 28 , 29 ].…”

“…Diabetes mellitus (DM) is associated with well-known infectious and dermatologic complications, partly from anomalies of the cardio–metabolic profile [ 44 ]. Hypogonadism, either central or of gonadal causes, is manifested as pubertal delay, sexual dysfunction, fertility disturbances in adult females and males, as well as reduced bone mineral density (BMD) [ 24 , 28 , 29 ]. Children below the age of 12 y have been found with malnutrition (70%), but also at least 1 ED (23.33%) [ 24 ].…”